ClinVar Miner

Submissions for variant NM_000251.3(MSH2):c.2220_2223dup (p.Asp742fs)

dbSNP: rs1573573619
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001014839 SCV001175601 pathogenic Hereditary cancer-predisposing syndrome 2021-09-13 criteria provided, single submitter clinical testing The c.2220_2223dupCAAA pathogenic mutation, located in coding exon 14 of the MSH2 gene, results from a duplication of CAAA at nucleotide position 2220, causing a translational frameshift with a predicted alternate stop codon (p.D742Qfs*9). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.
Labcorp Genetics (formerly Invitae), Labcorp RCV001237914 SCV001410701 pathogenic Hereditary nonpolyposis colorectal neoplasms 2024-02-26 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asp742Glnfs*9) in the MSH2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MSH2 are known to be pathogenic (PMID: 15849733, 24362816). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MSH2-related conditions. ClinVar contains an entry for this variant (Variation ID: 820916). For these reasons, this variant has been classified as Pathogenic.
Myriad Genetics, Inc. RCV003455089 SCV004187946 pathogenic Lynch syndrome 1 2023-08-08 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation.

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